Wanted to share work led by Allison Schartman and Kristyne Stone highlighting the limitations of prenatal genetic testing/screening and current professional guidelines for offering various prenatal genetic screening/diagnostic tests. obgyn.onlinelibrary.wiley.com/doi/10.1002/...

Sharing work from our group, especially as we question paradigms of clinical screening for FH and elevated Lp(a): www.sciencedirect.com/science/arti... It is turning out that standard risk factors like LDL cholesterol and clinical/family history may not be adequate.

Any thoughts or methods for deriving etiologic fraction (EF%), or PAR%, from a multivariable logistic regression model for a variable of interest? Came across this: pubmed.ncbi.nlm.nih.gov/4050778/ But leveraging the community too... #EpiSky

Familial Hypercholesterolemia in Newborns url: jamanetwork.com/journals/jam...

Should Familial Hypercholesterolemia Be Included in Newborn Screening? url: jamanetwork.com/journals/jam...

Today is FH Awareness Day, #KnowFH. Anyone working with or experiencing familial heart diseases and genetically high cholesterol disorders benefit from the work of the @familyheartfdn.bsky.social

Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine www.ahajournals.org/doi/10.1161/...

Experiences of people with elevated lipoprotein(a) and the impact on family and child screening - Journal of Clinical Lipidology www.lipidjournal.com/article/S193...

Factors influencing retention of patient‐facing genetic counselors: Role of generational age and work environment - Frye - 2025 - Journal of Genetic Counseling onlinelibrary.wiley.com/doi/10.1002/...

Sorry, what was the question again? open.substack.com/pub/statsepi...

Ongoing work on rGS in the ICU setting: publications.aap.org/pediatrics/a...

Work from our recent IUGCP graduate: Evaluating first‐line genetic testing strategies for inpatients with congenital heart defects - Lindstrom - 2025 - Journal of Genetic Counseling - onlinelibrary.wiley.com/doi/10.1002/...

Thrilled to share the Journal of Genetic Counseling's Special issue on Research Methods! Including "how to" papers on: Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc! onlinelibrary.wiley.com/doi/toc/10.1... #AcademicSky 🧪

We hope to see our research methods paper be a resource to the GC community tackling their research using quantitative methods: onlinelibrary.wiley.com/doi/10.1002/... @j9austin.bsky.social #GCchat

I kinda wish "Effect and Cause" by the White Stripes would become the unofficial song for directed acyclic graphs (DAGs) and causal inference, generally @pwgtennant.bsky.social @epiellie.bsky.social @epidbydesign.bsky.social

Here is our work stemming from my dissertation on dysmorphology-guided prediction of genetic disorders in CHD: www.ahajournals.org/doi/10.1161/... We also use DCA to support genetic testing for CHD populations agnostic to clinical presentation @jamesrpriestmd.bsky.social @jwbelmon.bsky.social

Navigating VUS in genetic dyslipidemias, led by Hannah Ison, Gabe Kringlen, and Paul Crawford: pubmed.ncbi.nlm.nih.gov/39950242/

Huge gratitude to all the members of the editorial board, all our authors, reviewers, the podcast team... so many people contribute to our success... thank you all! @jodieingles27.bsky.social @tashawainstein.bsky.social @bmhgcepi.bsky.social @laurahercher.bsky.social @naomi-cgc.bsky.social 🙏 end🧵 ❤️

Let us start 2025 in a positive mood: here are 10 methods things researchers can worry *less* about in 2025

Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing: onlinelibrary.wiley.com/doi/10.1002/... #cardiosky

Compared larger to a smaller model (log reg), the LR test and delta AUC support use of the smaller model. But a reviewer now asking 4 NRI to "prove" the larger didn't improve NRI. I know Kerr's and Vickers's views of NRI (bad). How would u respond? @gscollins.bsky.social @richarddriley.bsky.social

Prediction models need appropriate internal, internal-external, and external validation: www.ncbi.nlm.nih.gov/pmc/articles...

Decision curve analysis supports universal genetic testing in infants w/ CHD: www.mdpi.com/2073-4425/15.... Thanks @ddsjoberg.bsky.social for DCA macros. @jamesrpriestmd.bsky.social @jwbelmon.bsky.social

@ddsjoberg.bsky.social wanted to say thank you for the great tutorial on DCA... especially the SAS macro. Dissertation spinoff projects have used it. Thanks!